title: Late onset GM2 gangliosidosis mimicking spinal muscular atrophy.
abstract: A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity. Neuroimaging tests of the brain showed only cerebellar atrophy consistent with MR spectroscopy (MRS) abnormalities. (18)F-fluorodeoxyglucose positron emission tomography (18)F-FDG PET/CT of the brain revealed glucose hypometabolism in cerebellum and in temporal and occipital lobes bilaterally.
authors.affiliation: Department of Neurology, Medical University of Warsaw, Poland. zygmunt.jamrozik@wum.edu.pl
authors.forename: Z
authors.initials: Z
authors.lastname: Jamrozik
authors.forename: A
authors.initials: A
authors.lastname: Lugowska
authors.forename: M
authors.initials: M
authors.lastname: Gołębiowski
authors.forename: L
authors.initials: L
authors.lastname: Królicki
authors.forename: J
authors.initials: J
authors.lastname: Mączewska
authors.forename: M
authors.initials: M
authors.lastname: Kuźma-Kozakiewicz
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D020143:Gangliosidoses, GM2 / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D054818:Hexosaminidase A / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis*; D009154:Mutation
chemical_list: D054818:Hexosaminidase A
keywords: (18)F-FDG PET CT; (18)F-fluorodeoxyglucose positron emission tomography; ALS; FDG-PET; GM2 gangliosidoses; GM2 gangliosidosis type 0; GM2 gangliosidosis type B; GM2-0; GM2-B; GM2G; HEXA gene; Hex A; Hex B; LOGM2; Late onset GM2 ganglisidosis; MLPA; MND; MRI; MRS; MRS (SVS); Motor neuron disease; NAA/Cr; SMA; Spinal muscular atrophy; TE; TSD; TSE; Tay–Sachs disease; amyotrophic lateral sclerosis; fluorodeoxyglucose positron emission tomography; hexosaminidase A; hexosaminidase B; late-onset or chronic GM2 gangliosidoses; mI/Cr; magnetic resonance imaging; magnetic resonance spectroscopy; magnetic resonance spectroscopy single voxel; motor neuron disease; multiplex ligation-dependent probe amplification; myo-inositol/creatine; ratio of the N-acetylaspartate/creatine; spinal muscular atrophy; time echo; time spin echo